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Co-occurrence of glial fibrillary acidic protein astrocytopathy in a patient with Leber's hereditary optic neuropathy due to DNAJC30 mutations.
Giannoccaro, Maria Pia; Morelli, Luana; Ricciardiello, Fortuna; Donadio, Vincenzo; Bartiromo, Fiorina; Tonon, Caterina; Carbonelli, Michele; Amore, Giulia; Carelli, Valerio; Liguori, Rocco; La Morgia, Chiara.
Afiliación
  • Giannoccaro MP; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Morelli L; Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy.
  • Ricciardiello F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Donadio V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Bartiromo F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Tonon C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Carbonelli M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Amore G; Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy.
  • Carelli V; Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy.
  • Liguori R; Ophthalmology Unit, Dipartimento di Scienze Mediche e Chirurgiche, Alma Mater Studiorum University of Bologna, Bologna, Italy.
  • La Morgia C; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Eur J Neurol ; 31(9): e16344, 2024 Sep.
Article en En | MEDLINE | ID: mdl-38757769
ABSTRACT
Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by visual loss, and rarely associated with extraocular manifestations including multiple sclerosis-like lesions. The association of LHON and neuromyelitis optica spectrum disorders has rarely been reported. Here is reported a case of glial fibrillary acidic protein astrocytopathy presenting with area postrema syndrome in a patient with previously diagnosed recessive LHON due to mutations in the nuclear gene DNAJC30. This case emphasizes the necessity of extensive investigations for other treatable conditions in patients with LHON and otherwise unexplained extraocular involvement and the possibility that also visual symptoms can respond to immune therapy.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Atrofia Óptica Hereditaria de Leber / Proteína Ácida Fibrilar de la Glía / Mutación Límite: Adult / Female / Humans / Male Idioma: En Revista: Eur J Neurol Asunto de la revista: NEUROLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Atrofia Óptica Hereditaria de Leber / Proteína Ácida Fibrilar de la Glía / Mutación Límite: Adult / Female / Humans / Male Idioma: En Revista: Eur J Neurol Asunto de la revista: NEUROLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido